Maternal Zika virus infection and newborn microcephaly-an analysis of the epidemiological evidence.
Sign Up to like & getrecommendations! Published in 2018 at "Annals of epidemiology"
DOI: 10.1016/j.annepidem.2017.11.010
Abstract: PURPOSE To evaluate whether existing data and evidence support a causal link between maternal Zika virus (ZIKV) infection and newborn microcephaly. METHODS I quantified and compared the prevalence of all and severe microcephaly in Brazil,… read more here.
Keywords: microcephaly; infection newborn; evidence; maternal zika ... See more keywords
Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.001
Abstract: Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based… read more here.
Keywords: mutation; growth restriction; rttn; microcephaly ... See more keywords
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104373
Abstract: Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated… read more here.
Keywords: microcephaly; intellectual disability; trappc9; large tunisian ... See more keywords
The Total Calvarial Transsutural Distraction Osteogenesis for 26 Children with Slit Ventricle, Craniosynostosis, or Microcephaly After Shunt Operation.
Sign Up to like & getrecommendations! Published in 2017 at "World neurosurgery"
DOI: 10.1016/j.wneu.2016.09.093
Abstract: OBJECTIVE Among shunt complications, the postshunt slit ventricle (PSSV) and the postshunt craniosynostosis (PSCS) may be managed by shunt valve upgrade and/or cranial expansion surgery. Here, we analyzed 26 children with PSSV, PSCS, or microcephaly… read more here.
Keywords: pscs; microcephaly; slit ventricle; pssv pscs ... See more keywords
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Sign Up to like & getrecommendations! Published in 2021 at "Human Genome Variation"
DOI: 10.1038/s41439-021-00165-7
Abstract: Mutations in a number of genes related to chromosomal segregation reportedly cause developmental disorders, e.g., chromosome alignment-maintaining phosphoprotein 1 ( CHAMP1 ). We report on an 8-year-old Japanese girl who presented with a developmental disorder… read more here.
Keywords: microcephaly; intellectual disability; champ1 mutation; disability microcephaly ... See more keywords
Diagnostic Accuracy of Ultrasound Scanning for Prenatal Microcephaly in the context of Zika Virus Infection: A Systematic Review and Meta-analysis
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/s41598-017-01991-y
Abstract: To assess the accuracy of ultrasound measurements of fetal biometric parameters for prenatal diagnosis of microcephaly in the context of Zika virus (ZIKV) infection, we searched bibliographic databases for studies published until March 3rd, 2016.… read more here.
Keywords: microcephaly; meta analysis; accuracy ultrasound; zika virus ... See more keywords
Zika virus infection in pregnancy and adverse fetal outcomes in São Paulo State, Brazil: a prospective cohort study
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-69235-0
Abstract: Robust epidemiological and biological evidence supports a causal link between prenatal Zika Virus (ZIKV) infection and congenital brain abnormalities including microcephaly. However, it remains uncertain if ZIKV infection in pregnancy also increases the risk for… read more here.
Keywords: risk; pregnancy; microcephaly; infection ... See more keywords
First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2020.1785410
Abstract: Mandibulofacial dysostosis with microcephaly (MFDM) is a genetic syndrome comprising microcephaly, first and second branchial arch anomalies, hearing loss, dysmorphic features, systemic malformatio... read more here.
Keywords: microcephaly; dysostosis microcephaly; first trimester; mandibulofacial dysostosis ... See more keywords
Minimal immune determinants connect Zika virus, human Cytomegalovirus, and Toxoplasma gondii to microcephaly‐related human proteins
Sign Up to like & getrecommendations! Published in 2017 at "American Journal of Reproductive Immunology"
DOI: 10.1111/aji.12608
Abstract: Aiming at the molecular definition of the relationship(s) between prenatal infections and fetal microcephaly and using pentapeptides as minimal immune determinants, we analyzed the peptide matching between proteins from infectious agents involved in microcephalic syndromes… read more here.
Keywords: microcephaly; immune determinants; minimal immune; zika virus ... See more keywords
GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13390
Abstract: Various genetic defects can cause intellectual and developmental disabilities (IDDs). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism… read more here.
Keywords: gpt2 mutations; hereditary spastic; microcephaly; spastic paraplegia ... See more keywords
Prevalence of microcephaly in eight south-eastern and midwestern Brazilian neonatal intensive care units: 2011–2015
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2016-311541
Abstract: Objective To describe the prevalence of microcephaly in infants admitted to the neonatal intensive care units (NICUs) in eight private hospitals in south-eastern and midwestern Brazil, from 2011 to 2015. Design Observational, cross-sectional study in… read more here.
Keywords: 2011 2015; microcephaly; eastern midwestern; prevalence microcephaly ... See more keywords